Jessica Garau

Pavia, Italy

Last Updated: 09/26/2026

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Found 23 publications

Parkin-Related Parkinson's Disease Presenting With Childhood-Onset Isolated Action Tremor: A Case Report.

Parkin-Related Parkinson's Disease Presenting With Childhood-Onset Isolated Action Tremor: A Case Report.

Journal: Movement disorders clinical practice

Published: September 30, 2025

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.

Journal: Genes

Published: June 30, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 2025

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Journal: Pediatric neurology

Published: February 15, 2025

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Journal: Pediatric neurology

Published: December 26, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Journal: European journal of human genetics : EJHG

Published: May 27, 2024

"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.

"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.

Journal: Movement disorders clinical practice

Published: April 06, 2024

Biological pathways leading to septo-optic dysplasia: a review.

Biological pathways leading to septo-optic dysplasia: a review.

Journal: Orphanet journal of rare diseases

Published: April 04, 2024

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Journal: AJNR. American journal of neuroradiology

Published: March 26, 2024

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

Journal: American journal of medical genetics. Part A

Published: October 06, 2023

RNA expression profiling in lymphoblastoid cell lines from mutated and non-mutated amyotrophic lateral sclerosis patients.

RNA expression profiling in lymphoblastoid cell lines from mutated and non-mutated amyotrophic lateral sclerosis patients.

Journal: The journal of gene medicine

Published: October 04, 2023

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.

Journal: Genes & diseases

Published: March 08, 2023

Showing 1-12 of 23

Last Updated: 09/26/2026